ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter) (rs1057518782)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000415330 SCV000492571 likely pathogenic Growth delay; Delayed speech and language development; Intellectual disability; Periventricular leukomalacia; Atrophy/Degeneration affecting the brainstem; Corneal opacity; Delayed myelination 2016-06-08 no assertion criteria provided clinical testing

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